A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17146843



Internal ID21421958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139769238..139769238hg38UCSC Ensembl
chr7:139469037..139469037hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642659
Supporting Variants
SamplesHG00731
Known GenesHIPK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17146843
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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